S126P (p.Ser126Pro) variant of MMAB (Q96EY8)
S126P (p.Ser126Pro) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S126P (p.Ser126Pro) variant details
- p.Ser126Pro
- gnomAD rs1454037914
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 21.60
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available